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Journal article

Clinical application of a protocol based on universal next-generation sequencing for the diagnosis of beta-thalassaemia and sickle cell anaemia in preimplantation embryos

Abstract:

Research question

Mutations of the beta-globin gene (HBB) cause beta-thalassaemia and sickle cell anaemia and are the most common cause of severe inherited disease in humans. Traditional PGD protocols for the detection of HBB mutations frequently involve labour intensive, patient-specific test design due to the wide diversity of disease associated HBB mutations. For this reason, we aimed to develop and clinically apply a universal PGD method to test for mutations in the HBB gene....

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted Manuscript

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Publisher copy:
10.1016/j.rbmo.2018.05.005

Authors


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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Womens & Reproductive Health
Role:
Author
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National Institute for Health Research More from this funder
University of Oxford More from this funder
Publisher:
Elsevier Publisher's website
Journal:
Reproductive BioMedicine Online Journal website
Volume:
37
Issue:
2
Pages:
136-144
Publication date:
2018-05-21
Acceptance date:
2018-05-02
DOI:
EISSN:
1472-6491
ISSN:
1472-6483
Pubs id:
pubs:856342
URN:
uri:340161da-b2ae-4950-ba43-64b77cc53af2
UUID:
uuid:340161da-b2ae-4950-ba43-64b77cc53af2
Local pid:
pubs:856342

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